2025 American Academy of Neurology Abstract Website

Objective:

To compare retinal microvascular findings in patients with or without CADASIL using optical coherence tomography angiography (OCTA).

Background:

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral small vessel disease (cSVD), yet there is currently no biomarker for early detection. We tested the hypothesis that retinal microvasculature differs between CADASIL and non-SVD controls.

Design/Methods:

We conducted a case-control study that included adults with CADASIL, prospectively recruited between July 2020 and December 2021 at a single center. All participants underwent retinal OCTA scans and cognitive assessments (Kokmen, Trial A). CADASIL were identified genetically or histopathologically, and controls were age-matched without cSVD on brain MRI. Retinal OCTA parameters, including vessel density (VD) and retinal thickness in the parafovea and perifoveal regions were compared using the Mann Whitney-U test.

Results:

There were 19 participants with CADASIL (mean age 52±15years, 47.5% females) and 17 controls (mean age 49±12years, 76.5% females) in this cohort. There were no significant differences in age, sex hypertension, diabetes and smoking between the two groups, but the prevalent stroke was higher in patients with CADASIL (44.4% vs 5.9%, P=0.009). CADASIL patients scored lower on the Kokmen (32.7±4.1 vs 37.1±1.1, P<0.001), and had slower processing speed on Trial A (42±32 vs 27±9 seconds, P=0.032). CADASIL had numerically lower parafoveal (53.7±3.9 vs 56.4±4.6, P=0.069) and perifoveal VD (50.0±6.1vs 51.1±3.5, P=0.230) of the deep plexus. Parafoveal retinal thickness was also thinner in patients with CADASIL (321.89 ± 17.17 vs 323.69 ± 16.74, P=0.562).

Conclusions:

This study observed a trend of lower macular vessel density in CADASIL patients compared to matched controls without small vessel disease. These findings suggest that macular retinal vessel density could serve as a potential biomarker for CADASIL for early disease detection or monitoring. Larger, longitudinal studies are needed to validate these findings.